国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2011, Vol. 30 ›› Issue (2): 104-107.

• 综述 • 上一篇    下一篇

种植前遗传学筛查与人类早期胚胎诊断

郝 燕, 周 平   

  1. 230022 合肥，安徽医科大学第一附属医院生殖中心
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2011-03-15 发布日期:2011-03-15
  • 通讯作者: 周 平

Preimplantation Genetic Screen and Diagnosis of Early Human Embryos

HAO Yan， ZHOU Ping   

  1. Reproductive Medicine Center， Department of Obstetrics and Gynecology， the First Affiliated Hospital of Anhui Medical University， Hefei 230022， China
  • Received:1900-01-01 Revised:1900-01-01 Published:2011-03-15 Online:2011-03-15
  • Contact: ZHOU Ping

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摘要： 种植前遗传学筛查（PGS）是近十几年出现的以提高妊娠率、活产率为目的的早期产前诊断方法。其通过对染色体数目异常的筛选，选择染色体核型正常的胚胎进行移植。PGS是一种低危险度的种植前遗传学诊断（PGD），欧洲人类生殖和胚胎学协会（ESHRE）PGD协作组报告的PGS周期数占PGD一半以上，并逐年增加。PGS适用于高龄妇女、反复种植失败、非染色体结构异常的重复性流产等不孕不育夫妇，获得可接受的妊娠率。但对其有效性还有很大争议。综述PGS在人类早期胚胎诊断中的应用和存在的问题。

关键词: 植入前诊断, 遗传筛查, 原位杂交, 荧光, 非整倍性, 嵌合体

Abstract: PGS， as a technique of early prenatal diagnosis， has been performed in resent years as a way of improving pregnancy and live birth rates for patients. PGS identifies chromosomal abnormalities in embryos before transferred. After PGS， embryos with normal number of chromosomes are selected to transfer to the uterus. It is a kind of PGD with low risk. ESHRE PGD Consortium reported that the cycles of PGS account for more than half of the PGD cycles， and this proportion of PGS is increasing year by year. It has been performed in patients with advanced maternal age， recurrent implantation failure， recurrent miscarriage， and so on， for acceptable pregnancy rates. Although PGS offered a way for those patients with some risk factors， its effectiveness remains acataleptic at present. In this review， application of PGS and problems in diagnosis of early human embryos were discussed.

Key words: Preimplantation diagnosis, Genetic screening, In situ hybridization, fluorescence, Aneuploidy, Mosaic chimera